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Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP
- Source :
- American Journal of Medical Genetics, Part A, 179(4), 634-638. Wiley-Liss Inc., American journal of medical genetics. Part A, 179(4), 634-638. Wiley-Liss Inc.
- Publication Year :
- 2019
-
Abstract
- We report here a novel de novo missense variant affecting the last amino acid of exon 30 of CREBBP [NM_004380, c.5170G>A; p.(Glu1724Lys)] in a 17-year-old boy presenting mild intellectual disability and dysmorphisms but not resembling the phenotype of classical Rubinstein–Taybi syndrome. The patient showed a marked overweight from early infancy on and had cortical heterotopias. Recently, 22 individuals have been reported with missense mutations in the last part of exon 30 and the beginning of exon 31 of CREBBP, showing this new phenotype. This additional case further delineates the genotype–phenotype correlations within the molecular and phenotypic spectrum of variants in CREBBP and EP300.
- Subjects :
- Male
0301 basic medicine
Adolescent
030105 genetics & heredity
Biology
medicine.disease_cause
03 medical and health sciences
Exon
Genetics
medicine
Humans
Missense mutation
CREB-binding protein
EP300
Genetic Association Studies
Genetics (clinical)
Exome sequencing
Rubinstein-Taybi Syndrome
Mutation
Rubinstein–Taybi syndrome
Exons
Prognosis
medicine.disease
CREB-Binding Protein
Phenotype
Pedigree
030104 developmental biology
biology.protein
Female
Subjects
Details
- Language :
- English
- ISSN :
- 15524825
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics, Part A, 179(4), 634-638. Wiley-Liss Inc., American journal of medical genetics. Part A, 179(4), 634-638. Wiley-Liss Inc.
- Accession number :
- edsair.doi.dedup.....b0ebbebcbe1c7a5a1879d2cb09db82e3